22 research outputs found

    L’argomentazione delle decisioni della Cassazione: tra autorevolezza del precedente ed esigenze di semplificazione.

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    La relazione mira ad approfondire il ruolo dell'argomentazione nel ragionamento dei giudici della Corte di Cassazione italiana e processo decisionale, indicando la funzione del vincolo dello stare decisis (precedente) in un sistema di civil law, quale quello italiano, e tenendo conto del carico di ricorsi che ogni anno la Corte deve gestire

    Chromosomal abnormalities in couples with reproductive disorders

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    Aim: To determine the prevalence of chromosomal abnormalities in couples with reproductive disorders. Methods: A retrospective study was performed in 939 Mexican couples with reproductive disorders (542 with recurrent fetal loss, 356 with malformed/stillborn children, and 41 with sterility) whose karyotype was established on GTG-banded metaphases. Results: A chromosomal aberration was detected in one partner of 52 couples, including a double translocation carrier; therefore, the prevalence of chromosomally abnormal couples was 5.5%; 31 couples with recurrent fetal loss (31/542, 5.7%), 15 with malformed/stillborn children (15/356, 4.2%), and 6 with sterility (6/41, 14.6%). There were 43 couples with structural rearrangements (29 reciprocal translocations, 10 robertsonian translocations, 2 inversions, 1 insertion, and 1 ring) and 9 with gonosomal aneuploidies. The affected partner was female in 28 (53.8%) and male in 24 (46.2%) couples. In addition, 17 couples (1.8%) with the structural variant inversion 9qh were detected. Conclusion: The prevalence of chromosomal abnormalities found in our sample is consistent with figures described in several populations around the world. Copyright � 2008 S. Karger AG

    Secondary chromosomal changes in 34 Philadelphia-chromosome-positive chronic myelocytic leukemia patients from the Mexican West

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    The clonal evolution in t(9;22)-positive chronic myelocytic leukemia (CML) is well established. Four major changes occur in more than 70% of patients: +8, i(17q), +19, and an extra Philadelphia chromosome. The frequencies of secondary chromosomal changes in 34 patients from the states of Jalisco, Nayarit, Michoacán, and Colima (the Mexican West) with Philadelphia-chromosome- positive CML were assessed. The most frequent abnormalities were tetraploidy (12 cases); +8, inv(3)(q21q26), and octoploidy (3 cases each); and +der(22)(2 cases). Some translocations not previously associated with CML were observed, such as t(2;7)(p12;q36), t(3;6)(q26;p25), t(3;17)(q26;p13), and t(6;17)(q21;q23~q25). Significant differences were found for +8 with respect to population results from Japan and from southern, eastern, and western Europe; for i(17)(q10) from eastern Europe; for +19 from Japan and western Europe; and for +der(22) from Japan, southern Europe, and western Europe. Although polyploidy could result from endomitosis, there is no direct evidence that the BCR/ABL protein influences such a process; however, protein kinases such as MAPK, which are involved in endomitosis, are activated by the BCR/ABL protein, and so the BCR/ABL protein could promote endomitosis through the MAPK pathway. © 2004 Elsevier Inc. All rights reserved

    Self adaptive high pass filtering using photochromic glass

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    The clonal evolution in t(9;22)-positive chronic myelocytic leukemia (CML) is well established. Four major changes occur in more than 70% of patients: +8, i(17q), +19, and an extra Philadelphia chromosome. The frequencies of secondary chromosomal changes in 34 patients from the states of Jalisco, Nayarit, Michoacán, and Colima (the Mexican West) with Philadelphia-chromosome- positive CML were assessed. The most frequent abnormalities were tetraploidy (12 cases); +8, inv(3)(q21q26), and octoploidy (3 cases each); and +der(22)(2 cases). Some translocations not previously associated with CML were observed, such as t(2;7)(p12;q36), t(3;6)(q26;p25), t(3;17)(q26;p13), and t(6;17)(q21;q23~q25). Significant differences were found for +8 with respect to population results from Japan and from southern, eastern, and western Europe; for i(17)(q10) from eastern Europe; for +19 from Japan and western Europe; and for +der(22) from Japan, southern Europe, and western Europe. Although polyploidy could result from endomitosis, there is no direct evidence that the BCR/ABL protein influences such a process; however, protein kinases such as MAPK, which are involved in endomitosis, are activated by the BCR/ABL protein, and so the BCR/ABL protein could promote endomitosis through the MAPK pathway. " 2004 Elsevier Inc. All rights reserved.",,,,,,"10.1016/S0165-4608(03)00283-8",,,"http://hdl.handle.net/20.500.12104/44406","http://www.scopus.com/inward/record.url?eid=2-s2.0-0345829228&partnerID=40&md5=113a9da79499375ddf0a8c8bb351167

    Sconfini dell'educazione. Quando irrompono emozioni violente nel lavoro educativo

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    Ai margini della mente vigile, ai margini della città ben organizzata, ai margini del mondo agiato esistono dolorose realtà: quella dei giovani disorientati che non sanno o non possono progettare il proprio futuro, quella degli emarginati che vivono cronicamente nei ghetti e nell’illegalità, quella dei poveri del mondo che sono esclusi o sfruttati dall’economia globale. In questi territori, percorsi da violente emozioni, dove la ragione e la parola sono precarie e il vivere civile incerto e difficile, l’educazione è luogo di possibile speranza. Il paradigma pedagogico ereditato dalla scuola di Comenio sembra funzionare solo per coloro che vivono già una vita civile, che hanno accesso alla parola e dimestichezza con la cultura razionale. Occorre allora un paradigma pedagogico nuovo, che dia voce a chi non ce l’ha, che allenti le maglie della paura e dell’odio, riaprendo la fiducia nel futuro: un paradigma che utilizzi pratiche che sconfinano dal consueto, avvalendosi dei dispositivi psicologici volti a sostenere la riflessività e la cura di sé, dell’altro e delle relazioni. La scuola comunitaria va oltre il concetto di riproduzione della società per perseguire la sua rifondazione: in quest’ottica essa diventa luogo di frontiera per eccellenza e quindi realtà che attiva cittadinanza per le nuove generazioni e non solo per i giovani a rischio di emarginazione

    Loss of 10p material in a child with human papillomavirus-positive disseminated bilateral retinoblastoma

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    Retinoblastoma (RB) is a malignant childhood tumor that results from loss or inactivation of both alleles of the RB1 gene. Human papillomavirus (HPV) DNA sequences have been found in RB tissue, suggesting a role of the viral infection with RB. We here describe a child with disseminated bilateral RB without familial history, who displayed a loss of material from 10p. Fluorescence in situ hybridization studies showed a somatic loss of both alleles of the RB1 gene. Moreover, sequences for HPV-6a were detected on DNA extracted from eye tumor tissue and from nonstimulated peripheral blood leukocyte cultures. The eye tumor tissue was also positive for HPV L1 viral proteins. Repeated loss of the short arm of chromosome 10 in HPV-transfected keratinocytes has been reported. Loss of heterozygosity in 10p14?p15 is also frequent in cervical cancers. Therefore, it seems probable that the abnormalities on 10p detected in the present case are related to the HPV infection. Thus, HPV could be a cofactor in the progression of RB by promoting nonrandom additional mutations. � 2005 Elsevier Inc. All rights reserved

    Prevalence of the BCR/ABL1 transcripts in Mexican patients with chronic myelogenous leukemia

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    RT-PCR studies in 93 patients with chronic myelogenous leukemia from the Mexican West were done in order to know the proportion of b2a2 and b3a2 BCR/ABL1 transcripts. Forty-five patients showed the b3a2 transcript (48%), 37 (40%) displayed the b2a2 and in 11 cases (12%) both transcripts were detected. Statistical analyses showed that these figures are in accordance with two of three similar studies realized in Mexican population. Moreover, significant differences were found among Mexican people and patients from other countries, namely Ecuador, England, Italy, Poland, Japan, and Thailand. Ecuadorian patients showed differences with all the populations analyzed. These variations could be due to a different genetic background

    Prevalence of the BCR/ABL1 transcripts in Mexican patients with chronic myelogenous leukemia

    No full text
    RT-PCR studies in 93 patients with chronic myelogenous leukemia from the Mexican West were done in order to know the proportion of b2a2 and b3a2 BCR/ABL1 transcripts. Forty-five patients showed the b3a2 transcript (48%), 37 (40%) displayed the b2a2 and in 11 cases (12%) both transcripts were detected. Statistical analyses showed that these figures are in accordance with two of three similar studies realized in Mexican population. Moreover, significant differences were found among Mexican people and patients from other countries, namely Ecuador, England, Italy, Poland, Japan, and Thailand. Ecuadorian patients showed differences with all the populations analyzed. These variations could be due to a different genetic background

    Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia

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    We report a boy with Down syndrome and leukemia who acquired uniparental isodisomy of chromosome 7q as a secondary chromosomal change during recurrence of the disease. His karyotype before therapy was 46,XY,der(1)t(1;1)(p36;q32),-7,+21c[17]/46,idem,del(9)(p22)[10], whereas at recurrence it was 46,XY,der(1)t(1;1)(p36;q32,-7,der(7)(qter?p22?pter::q10?qter), del(9)(p22),+21c[13]/47,XY,+21c[2]. By using polymerase chain reaction amplification of D7S493 and D7S527 markers, we identified the loss of the maternal chromosome 7 with a consequent paternal isodisomy in the clone with dup7q. This rearrangement could be implicated in the progression of the disease by causing (1) nullisomy for a gene or genes located on 7p22?pter, (2) functional double doses of exclusively paternal expressed genes, and (3) restoration of the effects produced by haploinsufficiency of biparental expressed genes. � 2002 Elsevier Science Inc. All rights reserved
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